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目的:探讨Ⅳ型高脂血症(ⅣHL)患者高密度脂蛋白(HDL)亚类组成与脂蛋白酯酶基因多态性的关系。方法:采用聚合酶链反应限制性片段长度多态性和双向电泳免疫印迹检测法,分析104例ⅣHL患者和107例血脂正常者的脂蛋白酯酶基因内含子8HindⅢ酶切位点多态性、HDL亚类组成及相对百分含量。结果:ⅣHL组和对照组均以H+H+纯合子基因型为主,ⅣHL患者H+等位基因频率较对照组增加,而H-H-等位基因频率显著降低(P<0.05)。ⅣHL组和对照组H+H+基因型者与H-H-者比较,血浆TG、TG/HDLC比值明显升高,Ⅳ型HL组H+H+基因型者与H-H-者比较,HDL小颗粒的preβ1HDL、HDL3a相对含量增多,大颗粒的HDL2a、HDL2b相对含量减少,其差异有统计学意义(P<0.05)。结论:ⅣHL患者脂蛋白酯酶基因多态性与HDL亚类的组成及成熟代谢相关。
Objective: To investigate the relationship between high-density lipoprotein (HDL) subtype and lipoprotein lipase gene polymorphism in type IV hyperlipidemia (IVHL). Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and two-dimensional electrophoresis (WBI) were used to analyze the polymorphism of 8HindⅢ in lipoprotein lipase in 104 cases of IVHL and 107 cases of normal blood lipids , HDL subclass composition and relative percentage. Results: H + H + homozygous genotype was the main factor in HHH group and control group. H + allele frequency in HHH patients was higher than that in control group, but H-H-allele frequency was significantly lower (P <0.05). HH group and control group H + H + genotype compared with HH-, plasma TG, TG / HDLC ratio was significantly increased, type H HL group H + H + genotype compared with HH-, HDL small particles of preβ1HDL, The relative content of HDL3a increased, while the relative content of HDL2a and HDL2b in large particles decreased. The difference was statistically significant (P <0.05). CONCLUSION: The polymorphisms of lipoprotein lipase in patients with IVHL are related to the composition of HDL subclasses and mature metabolism.